(Q33384144)

26 July 2017

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title

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria (English)

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L-2-hydroxyglutaric aciduria

26 July 2017

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7

Andrea Superti-Furga

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Marine Jequier Gygax

object named as

Marine Jequier Gygax

1

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Diana Ballhausen

object named as

Diana Ballhausen

8

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author name string

Eliane Roulet-Perez

2

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26 July 2017

Kathleen Meagher-Villemure

3

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26 July 2017

Cornelis Jakobs

4

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26 July 2017

Gajja S Salomons

5

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26 July 2017

Olivier Boulat

6

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26 July 2017

Luisa Bonafé

9

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26 July 2017

13 November 2008

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European Journal of Pediatrics

26 July 2017

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26 July 2017

168

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26 July 2017

8

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26 July 2017

957-962

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https://scigraph.springernature.com/pub.10.1007/s00431-008-0869-9

26 July 2017

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cites work

L-2-hydroxyglutaric aciduria presenting as migraine

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-008-0869-9

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-008-0869-9

Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: A population-based study

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-008-0869-9

L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death

21 January 2018

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: clinical, biochemical and neuroradiological findings in two Venezuelan patients

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings

1 reference

12 December 2020

Sudden unexpected deaths in infancy: what are the causes?

1 reference

12 December 2020

Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria.

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: two further cases

1 reference

12 December 2020

L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease

1 reference

12 December 2020

L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.

1 reference

12 December 2020

Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship

1 reference

12 December 2020

L-2 hydroxyglutaric aciduria: proton magnetic resonance spectroscopy and diffusion magnetic resonance imaging findings

1 reference

12 December 2020

L-2 hydroxyglutaric aciduria in a patient with Klinefelter syndrome

1 reference

12 December 2020

A successfully treated adult patient with L-2-hydroxyglutaric aciduria

1 reference

12 December 2020

Epilepsy in a young adult caused by L-2-hydroxyglutaric aciduria: a case report

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria in two siblings

1 reference

12 December 2020

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

1 reference

12 December 2020

L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

1 reference

12 December 2020

Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride

1 reference

12 December 2020

Diffusion magnetic resonance imaging patterns in metabolic and toxic brain disorders

1 reference

12 December 2020

Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria

1 reference

12 December 2020

Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria

1 reference

12 December 2020

L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients

1 reference

12 December 2020

L-2-Hydroxyglutaric aciduria: MRI in seven cases.

1 reference

12 December 2020

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: a report of six cases and review of the literature

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene

1 reference

12 December 2020

L-2-Hydroxyglutaric aciduria presenting with severe autistic features.

1 reference

12 December 2020

The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria, a defect of metabolite repair

1 reference

12 December 2020

Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria

1 reference

12 December 2020

Osteoma of the calvaria in L-2-hydroxyglutaric aciduria

1 reference

12 December 2020

An adult form of L-2-hydroxyglutaric aciduria revealed by tremor

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: a report of 29 patients

1 reference

12 December 2020

Sudden unexpected death in infancy (SUDI).

1 reference

12 December 2020

L-2-Hydroxyglutaric aciduria presenting as status epilepticus.

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family

1 reference

12 December 2020

L-2-hydroxyglutaric aciduria: three Australian cases

1 reference

12 December 2020

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

1 reference

12 December 2020

The metabolic investigation of sudden infant death.

1 reference

12 December 2020

Diffusion-weighted MR imaging in leukodystrophies

1 reference

12 December 2020

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

1 reference

12 December 2020

Familial encephalopathy and L-2-hydroxyglutaric aciduria

1 reference

12 December 2020

Single-voxel MR spectroscopy and diffusion-weighted MRI in two patients with l-2-hydroxyglutaric aciduria

1 reference

12 December 2020

Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid

1 reference

12 December 2020

Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

1 reference

12 December 2020

10.1007/S00431-008-0869-9

Identifiers

DOI

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Dimensions Publication ID

26 July 2017

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1 reference